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NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys) AND H syndrome

Germline classification:
Likely pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002260484.3

Allele description [Variation Report for NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys)]

NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys)

Gene:
SLC29A3:solute carrier family 29 member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_018344.6(SLC29A3):c.400C>T (p.Arg134Cys)
HGVS:
  • NC_000010.11:g.71351578C>T
  • NG_017066.2:g.37320C>T
  • NM_001174098.2:c.400C>T
  • NM_001363518.2:c.166C>T
  • NM_018344.6:c.400C>TMANE SELECT
  • NP_001167569.1:p.Arg134Cys
  • NP_001350447.1:p.Arg56Cys
  • NP_060814.4:p.Arg134Cys
  • LRG_1318t1:c.400C>T
  • LRG_1318:g.37320C>T
  • LRG_1318p1:p.Arg134Cys
  • NC_000010.10:g.73111335C>T
  • NR_033413.2:n.368C>T
Protein change:
R134C
Links:
dbSNP: rs1430557607
NCBI 1000 Genomes Browser:
rs1430557607
Molecular consequence:
  • NM_001174098.2:c.400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363518.2:c.166C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018344.6:c.400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033413.2:n.368C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
H syndrome
Synonyms:
Histiocytosis with joint contractures and sensorineural deafness; Faisalabad histiocytosis; HISTIOCYTOSIS AND LYMPHADENOPATHY WITH OR WITHOUT CUTANEOUS, CARDIAC, AND/OR ENDOCRINE FEATURES, JOINT CONTRACTURES, AND/OR DEAFNESS; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011273; MedGen: C1864445; Orphanet: 168569; OMIM: 602782

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002540114Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002540114.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023